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    • Keywords

       

      3M syndrome; ubiquitination; proteasomal degradation; skeletal dysplasia; consanguinity.

    • Abstract

       

      This study evaluates a family with two siblings having severe growth retardation and facial dysmorphism, born to consanguineous normal healthy parents. Affymetrix CytoScan 750K microarray showed a 34-Mb pericentric homozygous region on chromosome 6 for both siblings. CUL7 was one of the 141 genes present in this region. Sanger sequencing of CUL7 gene detected a 2-bp novel deletion in the 15th exon (c.2943_2944delCT of the cDNA). This deletion leads to a frameshift and a premature termination signal much upstream of the wild-type termination signal, leading to a nonsense mediated decay of the mRNA. CUL7 protein plays an important role in formation of 3M complex, ubiquitination, microtubule dynamics and cell cycle regulation. Mutations in CUL7 gene is known to cause a rare 3M syndrome. Information about the novel mutation has been accepted in the ClinVar database with rs1064792895.

    • Author Affiliations

       

      SHAGUFTA SHAIKH1 SURESH K. G. SHETTIGAR1 SANTOSH KUMAR2 SURITA KANTHARIA3 JAGANNATH KURVA1 SUSAN CHERIAN1

      1. Cytogenetics and Molecular Genetics Section, Pathology Unit, Bhabha Atomic Research Centre Hospital, Anushaktinagar, Mumbai 400 094, India
      2. Pediatric Unit, and Bhabha Atomic Research Centre Hospital, Anushaktinagar, Mumbai 400 094, India
      3. Radiology Unit, Medical Division, Bhabha Atomic Research Centre Hospital, Anushaktinagar, Mumbai 400 094, India
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